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Likely inborn error of metabolism v6.10 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: SLC6A19.
Tag Q2_24_expert_review was removed from gene: SLC6A19.
Tag Q2_24_NHS_review was removed from gene: SLC6A19.
Likely inborn error of metabolism v6.10 SLC6A19 Achchuthan Shanmugasundram commented on gene: SLC6A19: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v6.9 SLC6A19 Achchuthan Shanmugasundram Mode of inheritance for gene SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v6.8 SLC6A19 Sarah Leigh Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Hartnup disorder, OMIM:234500 to Hartnup disorder, OMIM:234500
Likely inborn error of metabolism v5.5 SLC6A19 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2.

The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts).

Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.
Likely inborn error of metabolism v5.5 SLC6A19 Achchuthan Shanmugasundram Mode of inheritance for gene: SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Hartnup disorder, OMIM:234500 to Hartnup disorder, OMIM:234500
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Hartnup disorder, OMIM:234500 to Hartnup disorder, OMIM:234500
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Iminoglycinuria, digenic; Hartnup disorder AD to Hartnup disorder, OMIM:234500
Likely inborn error of metabolism v5.3 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: SLC6A19.
Likely inborn error of metabolism v5.3 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: SLC6A19.
Tag Q2_24_expert_review tag was added to gene: SLC6A19.
Likely inborn error of metabolism v5.3 SLC6A19 Achchuthan Shanmugasundram reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, OMIM:234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.129 SLC6A19 Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Likely inborn error of metabolism v1.47 SLC6A19 Ivone Leong Source NHS GMS was added to SLC6A19.
Source London North GLH was added to SLC6A19.
Likely inborn error of metabolism v0.4 SLC6A19 Ellen McDonagh gene: SLC6A19 was added
gene: SLC6A19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424
Phenotypes for gene: SLC6A19 were set to Iminoglycinuria, digenic; Hartnup disorder AD